Author
Bambino Gesù Children's HospitalORCID 0000-0002-6191-0978Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Kim Wong, Justin A. Bishop, Ilan Weinreb…·David J. Adams
Exome and transcriptome sequencing of salivary basal cell adenomas reveals a recurrent FBXW11 p.F517S mutation, exclusive with CTNNB1 p.I35T, together accounting for 94% of cases.
Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh…·Tianyun Wang
The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.
Elisa Benetti, Rossella Tita, Ottavia Spiga…·Carmelo Piscopo
The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.